Mutagenetix > Incidental Mutation

Incidental Mutation 'R8558:Wdr33'

660891

Institutional Source

Beutler Lab

Gene Symbol

Wdr33

Ensembl Gene

ENSMUSG00000024400

Gene Name

WD repeat domain 33

Synonyms

8430413N20Rik, 2310011G05Rik, 2810021O11Rik, 1110001N06Rik, WDC146

MMRRC Submission

068521-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R8558 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31937143-32040450 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31962947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 98 (M98K)

Ref Sequence

ENSEMBL: ENSMUSP00000080936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025264] [ENSMUST00000082319]

AlphaFold

Q8K4P0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025264
AA Change: M98K

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025264
Gene: ENSMUSG00000024400
AA Change: M98K

Domain	Start	End	E-Value	Type
WD40	107	147	2.15e-1	SMART
WD40	150	189	5.77e-5	SMART
WD40	191	230	1.89e-9	SMART
WD40	233	274	2.59e-7	SMART
WD40	277	316	2.73e-6	SMART
WD40	320	360	1.71e-7	SMART
WD40	364	403	1.52e-4	SMART
low complexity region	481	499	N/A	INTRINSIC
coiled coil region	531	559	N/A	INTRINSIC
low complexity region	573	587	N/A	INTRINSIC
low complexity region	608	624	N/A	INTRINSIC
low complexity region	628	668	N/A	INTRINSIC
low complexity region	679	722	N/A	INTRINSIC
low complexity region	725	761	N/A	INTRINSIC
internal_repeat_1	778	803	3.47e-9	PROSPERO
low complexity region	806	818	N/A	INTRINSIC
internal_repeat_1	821	845	3.47e-9	PROSPERO
low complexity region	848	881	N/A	INTRINSIC
low complexity region	920	935	N/A	INTRINSIC
low complexity region	938	951	N/A	INTRINSIC
low complexity region	1000	1018	N/A	INTRINSIC
low complexity region	1041	1049	N/A	INTRINSIC
low complexity region	1057	1100	N/A	INTRINSIC
low complexity region	1137	1154	N/A	INTRINSIC
low complexity region	1190	1207	N/A	INTRINSIC
low complexity region	1251	1262	N/A	INTRINSIC
low complexity region	1287	1330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000082319
AA Change: M98K

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000080936
Gene: ENSMUSG00000024400
AA Change: M98K

Domain	Start	End	E-Value	Type
WD40	107	147	2.15e-1	SMART
WD40	150	189	5.77e-5	SMART
WD40	191	230	1.89e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is highly expressed in testis and the protein is localized to the nucleus. This gene may play important roles in the mechanisms of cytodifferentiation and/or DNA recombination. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,430,497 (GRCm39)	R51S	probably benign	Het
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Abcb5	T	C	12: 118,841,566 (GRCm39)	T960A	probably benign	Het
Abcc3	A	G	11: 94,242,623 (GRCm39)		probably null	Het
Adamtsl3	A	T	7: 82,077,600 (GRCm39)	D95V	possibly damaging	Het
Ash1l	T	A	3: 88,891,713 (GRCm39)	S1197R	probably damaging	Het
BC034090	T	A	1: 155,097,085 (GRCm39)	H671L	possibly damaging	Het
Bltp1	T	A	3: 37,102,750 (GRCm39)	M1443K		Het
Btnl9	T	C	11: 49,071,619 (GRCm39)	E68G	probably benign	Het
C1qtnf1	A	T	11: 118,339,149 (GRCm39)	Y273F	probably damaging	Het
C4b	A	T	17: 34,955,541 (GRCm39)	C714S	probably damaging	Het
Carmil1	G	A	13: 24,209,863 (GRCm39)	T1204I	probably benign	Het
Cdk12	T	C	11: 98,101,915 (GRCm39)	L591P	unknown	Het
Ces2f	T	A	8: 105,679,758 (GRCm39)	L417*	probably null	Het
Chl1	T	A	6: 103,685,390 (GRCm39)	S810R	probably benign	Het
Ckap2	A	G	8: 22,658,811 (GRCm39)	V644A	possibly damaging	Het
Ctdsp2	T	A	10: 126,829,746 (GRCm39)	V126E	probably damaging	Het
Dok6	G	T	18: 89,492,066 (GRCm39)	H170Q	probably damaging	Het
Dynlrb1	T	C	2: 155,084,728 (GRCm39)		probably null	Het
Eif5b	T	C	1: 38,083,795 (GRCm39)	L757S	probably damaging	Het
Epas1	A	C	17: 87,116,896 (GRCm39)	T189P	possibly damaging	Het
Epha10	C	A	4: 124,788,777 (GRCm39)	N283K		Het
Epha5	C	A	5: 84,206,975 (GRCm39)	G853C	probably damaging	Het
Gapvd1	A	T	2: 34,594,493 (GRCm39)	H831Q	probably damaging	Het
Gcnt3	T	A	9: 69,941,996 (GRCm39)	K191*	probably null	Het
Gm14226	T	A	2: 154,866,909 (GRCm39)	S289T	probably benign	Het
Gm4846	T	A	1: 166,314,674 (GRCm39)	D323V	probably damaging	Het
Golga3	G	T	5: 110,356,421 (GRCm39)	R1036L	possibly damaging	Het
Gopc	T	C	10: 52,229,580 (GRCm39)	Q213R	probably damaging	Het
Hrh1	G	A	6: 114,457,564 (GRCm39)	V282M	probably benign	Het
Ighv5-4	T	C	12: 113,561,078 (GRCm39)	Y114C	probably damaging	Het
Igkv10-94	A	T	6: 68,681,636 (GRCm39)	I68N	probably damaging	Het
Kcnj3	A	G	2: 55,336,875 (GRCm39)	D247G	possibly damaging	Het
Lcn6	C	A	2: 25,570,718 (GRCm39)	S102Y	probably damaging	Het
Matk	C	A	10: 81,096,765 (GRCm39)	H232N	probably benign	Het
Mcm9	C	T	10: 53,492,068 (GRCm39)	V366I	probably benign	Het
Nadk	A	G	4: 155,669,844 (GRCm39)	I176V	probably benign	Het
Nlrp12	A	G	7: 3,298,111 (GRCm39)	L20P	probably damaging	Het
Oga	T	C	19: 45,746,511 (GRCm39)	S763G	probably benign	Het
Or10ag56	A	T	2: 87,139,583 (GRCm39)	Q170L	probably benign	Het
Or1e21	G	A	11: 73,344,309 (GRCm39)	S243F	probably damaging	Het
Or4a72	A	G	2: 89,405,329 (GRCm39)	L247P	probably damaging	Het
Pcdhgb6	T	A	18: 37,877,237 (GRCm39)	D648E	probably damaging	Het
Pkd1l3	A	T	8: 110,362,012 (GRCm39)	N1018I	probably damaging	Het
Plch2	T	C	4: 155,083,391 (GRCm39)	K516E	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Pnma2	C	T	14: 67,153,972 (GRCm39)	A132V	probably benign	Het
Prkn	T	C	17: 11,456,472 (GRCm39)	S99P	probably benign	Het
Prune2	A	G	19: 17,099,602 (GRCm39)	E1702G	probably damaging	Het
Qars1	T	A	9: 108,392,422 (GRCm39)	H756Q	probably benign	Het
Rab5a	A	G	17: 53,790,877 (GRCm39)		probably benign	Het
Rars2	A	G	4: 34,657,199 (GRCm39)	D515G	probably damaging	Het
Rpe65	T	A	3: 159,320,429 (GRCm39)	C329S	probably damaging	Het
Rps6ka2	G	A	17: 7,523,316 (GRCm39)	V231M	possibly damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
Scrt1	G	T	15: 76,403,843 (GRCm39)	S49*	probably null	Het
Sec23b	C	G	2: 144,428,308 (GRCm39)	D640E	possibly damaging	Het
Setdb1	C	T	3: 95,261,979 (GRCm39)	V96M	possibly damaging	Het
Sik3	C	A	9: 46,066,746 (GRCm39)	A175E	probably damaging	Het
Smarcad1	A	G	6: 65,060,908 (GRCm39)	K463E	probably benign	Het
Sobp	A	C	10: 43,003,888 (GRCm39)	C154G	probably damaging	Het
Sox6	A	G	7: 115,141,033 (GRCm39)	S482P	probably benign	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spink11	T	A	18: 44,324,748 (GRCm39)	R75*	probably null	Het
Sptb	T	C	12: 76,659,561 (GRCm39)	H1113R	probably benign	Het
Sypl2	A	T	3: 108,125,004 (GRCm39)	V119E	probably damaging	Het
Tbc1d24	T	C	17: 24,427,903 (GRCm39)	S20G	unknown	Het
Tektl1	T	C	10: 78,583,035 (GRCm39)	K450E	probably damaging	Het
Top2a	A	T	11: 98,912,549 (GRCm39)	V106D	probably damaging	Het
Tspyl4	G	C	10: 34,174,261 (GRCm39)	R251P	probably damaging	Het
Ttc21a	T	A	9: 119,787,835 (GRCm39)	L801Q	probably damaging	Het
Vgll3	A	G	16: 65,624,844 (GRCm39)	E64G	probably damaging	Het
Vmn2r30	A	G	7: 7,315,655 (GRCm39)	I726T	possibly damaging	Het
Vmn2r81	T	C	10: 79,106,467 (GRCm39)	S482P	possibly damaging	Het
Wasf1	T	G	10: 40,806,648 (GRCm39)	M97R	possibly damaging	Het
Wdr73	G	A	7: 80,548,254 (GRCm39)	T95I	probably damaging	Het

Other mutations in Wdr33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:Wdr33	APN	18	32,011,169 (GRCm39)	missense	probably damaging	1.00
IGL01099:Wdr33	APN	18	32,039,842 (GRCm39)	unclassified	probably benign
IGL01628:Wdr33	APN	18	32,021,363 (GRCm39)	missense	unknown
IGL03296:Wdr33	APN	18	31,960,444 (GRCm39)	missense	probably benign	0.03
R0103:Wdr33	UTSW	18	31,966,388 (GRCm39)	missense	probably damaging	1.00
R0279:Wdr33	UTSW	18	32,021,377 (GRCm39)	missense	unknown
R0563:Wdr33	UTSW	18	32,019,792 (GRCm39)	missense	possibly damaging	0.94
R0730:Wdr33	UTSW	18	31,968,429 (GRCm39)	splice site	probably benign
R1077:Wdr33	UTSW	18	31,968,514 (GRCm39)	missense	probably benign	0.03
R1377:Wdr33	UTSW	18	32,021,694 (GRCm39)	missense	unknown
R1712:Wdr33	UTSW	18	32,029,684 (GRCm39)	missense	unknown
R1855:Wdr33	UTSW	18	32,039,909 (GRCm39)	unclassified	probably benign
R2013:Wdr33	UTSW	18	32,022,029 (GRCm39)	missense	unknown
R2014:Wdr33	UTSW	18	31,966,652 (GRCm39)	missense	probably damaging	1.00
R4497:Wdr33	UTSW	18	32,026,132 (GRCm39)	missense	unknown
R4727:Wdr33	UTSW	18	32,021,500 (GRCm39)	missense	unknown
R4739:Wdr33	UTSW	18	32,019,139 (GRCm39)	missense	probably benign	0.17
R4777:Wdr33	UTSW	18	32,014,301 (GRCm39)	missense	probably damaging	1.00
R4907:Wdr33	UTSW	18	32,040,046 (GRCm39)	makesense	probably null
R5811:Wdr33	UTSW	18	32,035,673 (GRCm39)	missense	unknown
R6053:Wdr33	UTSW	18	32,011,116 (GRCm39)	missense	possibly damaging	0.93
R6454:Wdr33	UTSW	18	31,963,028 (GRCm39)	missense	possibly damaging	0.47
R7112:Wdr33	UTSW	18	32,026,056 (GRCm39)	missense	unknown
R7369:Wdr33	UTSW	18	32,019,719 (GRCm39)	missense	probably benign	0.00
R7519:Wdr33	UTSW	18	32,029,823 (GRCm39)	missense	unknown
R8278:Wdr33	UTSW	18	31,960,405 (GRCm39)	missense	possibly damaging	0.59
R8952:Wdr33	UTSW	18	31,960,393 (GRCm39)	missense	possibly damaging	0.61
R8994:Wdr33	UTSW	18	31,960,459 (GRCm39)	missense	probably benign	0.02
R9586:Wdr33	UTSW	18	31,966,669 (GRCm39)	missense	probably damaging	1.00
R9775:Wdr33	UTSW	18	32,037,406 (GRCm39)	missense	unknown
RF014:Wdr33	UTSW	18	32,014,326 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGACACTGAAAGTAAGTTCCAG -3'
(R):5'- GAGCACATTATCCTAACAGTAGTGGAC -3'

Sequencing Primer
(F):5'- ACTGAAAGTAAGTTCCAGATTAATGC -3'
(R):5'- TTGCCTGGAACTGTATAGACCAG -3'

Posted On

2021-03-08